Variant report

Variant	rs543478305
Chromosome Location	chr9:115819126-115819127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr9:115818833-115819372	A549	lung:	n/a	chr9:115819070-115819083
2	FOS	chr9:115818900-115819195	MCF10A-Er-Src	breast:	n/a	n/a
3	YY1	chr9:115818231-115819449	A549	lung:	n/a	chr9:115819041-115819061 chr9:115819047-115819055 chr9:115819014-115819023 chr9:115819045-115819053 chr9:115819044-115819054 chr9:115819044-115819066
4	TAF1	chr9:115818727-115819384	SK-N-SH	brain:	n/a	n/a
5	CREB1	chr9:115818681-115819503	GM12878	blood:	n/a	n/a
6	TCF12	chr9:115818717-115819476	ECC-1	luminal epithelium:	n/a	n/a
7	ZKSCAN1	chr9:115818849-115819243	Hela-S3	cervix:	n/a	n/a
8	TCF12	chr9:115818520-115819457	A549	lung:	n/a	n/a
9	YY1	chr9:115818464-115819247	GM12892	blood:	n/a	chr9:115819041-115819061 chr9:115819047-115819055 chr9:115819014-115819023 chr9:115819045-115819053 chr9:115819044-115819054 chr9:115819044-115819066
10	MAX	chr9:115818882-115819252	K562	blood:	n/a	n/a
11	USF1	chr9:115818864-115819194	SK-N-SH_RA	brain:	n/a	n/a
12	YY1	chr9:115818284-115819467	SK-N-SH	brain:	n/a	chr9:115819041-115819061 chr9:115819047-115819055 chr9:115819014-115819023 chr9:115819045-115819053 chr9:115819044-115819054 chr9:115819044-115819066
13	HCFC1	chr9:115818081-115819591	Hela-S3	cervix:	n/a	n/a
14	HEY1	chr9:115818937-115819338	K562	blood:	n/a	n/a
15	CHD2	chr9:115818886-115819195	HepG2	liver:	n/a	n/a
16	POLR2A	chr9:115818684-115819425	Gliobla	brain:	n/a	n/a
17	POLR2A	chr9:115818436-115819407	HepG2	liver:	n/a	n/a
18	SP1	chr9:115818713-115819434	A549	lung:	n/a	n/a
19	POLR2A	chr9:115818739-115819305	A549	lung:	n/a	n/a
20	MAZ	chr9:115818715-115819312	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr9:115818488-115819348	IMR90	lung:	n/a	n/a
22	POLR2A	chr9:115818749-115819393	HEK293	kidney:	n/a	n/a
23	POLR2A	chr9:115818459-115819383	Hela-S3	cervix:	n/a	n/a
24	NFIC	chr9:115818766-115819354	GM12878	blood:	n/a	chr9:115819051-115819068 chr9:115819051-115819067
25	CREB1	chr9:115818699-115819361	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr9:115818628-115819359	GM12891	blood:	n/a	n/a
27	YY1	chr9:115818426-115819419	ECC-1	luminal epithelium:	n/a	chr9:115819041-115819061 chr9:115819047-115819055 chr9:115819014-115819023 chr9:115819045-115819053 chr9:115819044-115819054 chr9:115819044-115819066
28	ELK1	chr9:115818909-115819181	GM12878	blood:	n/a	n/a
29	SPI1	chr9:115818870-115819200	GM12891	blood:	n/a	n/a
30	POLR2A	chr9:115818715-115819311	HepG2	liver:	n/a	n/a
31	YY1	chr9:115818487-115819462	A549	lung:	n/a	chr9:115819041-115819061 chr9:115819047-115819055 chr9:115819014-115819023 chr9:115819045-115819053 chr9:115819044-115819054 chr9:115819044-115819066
32	POLR2A	chr9:115818756-115819364	HepG2	liver:	n/a	n/a
33	YY1	chr9:115818368-115819420	GM12878	blood:	n/a	chr9:115819041-115819061 chr9:115819047-115819055 chr9:115819014-115819023 chr9:115819045-115819053 chr9:115819044-115819054 chr9:115819044-115819066
34	FOXP2	chr9:115818777-115819295	PFSK-1	brain:	n/a	n/a
35	ELF1	chr9:115818618-115819403	GM12878	blood:	n/a	chr9:115819070-115819083
36	EGR1	chr9:115818682-115819304	ECC-1	luminal epithelium:	n/a	chr9:115819074-115819083
37	TAF1	chr9:115818710-115819340	A549	lung:	n/a	n/a
38	POLR2A	chr9:115818735-115819372	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr9:115818775-115819290	ECC-1	luminal epithelium:	n/a	n/a
40	YY1	chr9:115818312-115819390	H1-hESC	embryonic stem cell:	n/a	chr9:115819041-115819061 chr9:115819047-115819055 chr9:115819014-115819023 chr9:115819045-115819053 chr9:115819044-115819054 chr9:115819044-115819066
41	TBP	chr9:115818979-115819235	K562	blood:	n/a	n/a
42	MAX	chr9:115818328-115819445	A549	lung:	n/a	n/a
43	GABPA	chr9:115818674-115819484	SK-N-SH	brain:	n/a	n/a
44	YY1	chr9:115818565-115819304	HepG2	liver:	n/a	chr9:115819041-115819061 chr9:115819047-115819055 chr9:115819014-115819023 chr9:115819045-115819053 chr9:115819044-115819054 chr9:115819044-115819066
45	ELF1	chr9:115818805-115819435	SK-N-SH	brain:	n/a	chr9:115819070-115819083
46	POLR2A	chr9:115818630-115819411	MCF10A-Er-Src	breast:	n/a	n/a
47	SPI1	chr9:115818781-115819322	HL-60	blood:	n/a	n/a
48	RFX5	chr9:115818909-115819337	Hela-S3	cervix:	n/a	n/a
49	TAF1	chr9:115818816-115819162	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr9:115818818-115819278	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ZFP37	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1047000	chr9:115610445-115884038	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv831691	chr9:115754699-115929459	Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1048246	chr9:115759281-115821188	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv540198	chr9:115759281-115821188	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1039564	chr9:115769553-115821327	Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv540199	chr9:115769553-115821327	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv1042280	chr9:115769753-115821188	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv540200	chr9:115769753-115821188	ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv1037784	chr9:115777096-115820554	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
12	esv2764155	chr9:115777108-115820566	Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv508563	chr9:115800632-115855728	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
14	nsv6672	chr9:115811030-115856455	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv825051	chr9:115811606-115882022	ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv825052	chr9:115811634-115882048	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv525545	chr9:115814473-115862852	ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv466492	chr9:115814473-115866273	Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv615205	chr9:115814473-115866273	Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv466493	chr9:115815398-115867276	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv615206	chr9:115815398-115867276	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv893734	chr9:115815398-115891009	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	esv2757353	chr9:115815398-115892245	ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	nsv8562	chr9:115818667-115854598	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115793000-115822200	ZNF genes & repeats	Liver	Liver
2	chr9:115799600-115820400	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr9:115817400-115819600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr9:115817600-115819200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:115817600-115819600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:115817600-115822400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
7	chr9:115817800-115819400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:115817800-115819400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr9:115817800-115819400	Active TSS	Stomach Smooth Muscle	stomach
10	chr9:115817800-115819600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr9:115817800-115819600	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr9:115817800-115819800	Active TSS	Fetal Brain Female	brain
13	chr9:115817800-115819800	ZNF genes & repeats	GM12878-XiMat	blood
14	chr9:115817800-115820000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:115817800-115820000	Active TSS	NHLF	lung
16	chr9:115817800-115820200	Active TSS	Right Atrium	heart
17	chr9:115817800-115822400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr9:115818000-115819200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:115818000-115819400	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr9:115818000-115819400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:115818000-115819400	ZNF genes & repeats	Spleen	Spleen
22	chr9:115818000-115819600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr9:115818000-115819600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:115818000-115819600	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr9:115818000-115819600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:115818000-115819600	Active TSS	Brain Angular Gyrus	brain
27	chr9:115818000-115819600	Active TSS	Fetal Kidney	kidney
28	chr9:115818000-115819600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr9:115818000-115819600	Active TSS	HSMM	muscle
30	chr9:115818000-115819600	Active TSS	NHDF-Ad	bronchial
31	chr9:115818000-115819800	Active TSS	Muscle Satellite Cultured Cells	--
32	chr9:115818000-115819800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr9:115818000-115819800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
34	chr9:115818000-115819800	ZNF genes & repeats	Fetal Intestine Large	intestine
35	chr9:115818000-115819800	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr9:115818000-115819800	Active TSS	Rectal Smooth Muscle	rectum
37	chr9:115818000-115819800	Active TSS	Osteobl	bone
38	chr9:115818200-115819200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr9:115818200-115819200	ZNF genes & repeats	Thymus	Thymus
40	chr9:115818200-115819400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr9:115818200-115819400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr9:115818200-115819400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr9:115818200-115819400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:115818200-115819400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr9:115818200-115819400	Active TSS	Esophagus	oesophagus
46	chr9:115818200-115819400	ZNF genes & repeats	Lung	lung
47	chr9:115818200-115819600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr9:115818200-115819600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr9:115818200-115819600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:115818200-115819600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood

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